Global changes in patterning, splicing and primate specific lncRNAs in autism brain
Neelroop N Parikshak,
T. Grant Belgard,
Michael J Gandal,
Jennifer K Lowe,
Benjamin J. Blencowe,
Daniel H. Geschwind
Posted 23 Sep 2016
bioRxiv DOI: 10.1101/077057
Posted 23 Sep 2016
We apply transcriptome-wide RNA sequencing in postmortem autism spectrum disorder (ASD) brain and controls and identify convergent alterations in the noncoding transcriptome, including primate specific lncRNA, and transcript splicing in ASD cerebral cortex, but not cerebellum. We characterize an attenuation of patterning between frontal and temporal cortex in ASD and identify SOX5, a transcription factor involved in cortical neuron fate specification, as a likely driver of this pattern. We further show that a genetically defined subtype of ASD, Duplication 15q Syndrome, shares the core transcriptomic signature of idiopathic ASD, indicating that observed molecular convergence in autism brain is the likely consequence of manifold genetic alterations. Using co-expression network analysis, we show that diverse forms of genetic risk for ASD affect convergent, independently replicated, biological pathways and provide an unprecedented resource for understanding the molecular alterations associated with ASD in humans.
- Downloaded 2,845 times
- Download rankings, all-time:
- Site-wide: 5,614
- In genomics: 567
- Year to date:
- Site-wide: 79,191
- Since beginning of last month:
- Site-wide: 62,279
Downloads over time
Distribution of downloads per paper, site-wide
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!